Genetic study reveals causal hypomorphic ABCA4 missense variants in late-onset retinal disease, highlighting the need to revise diagnostic screening.
These findings substantiate the causality of frequent missense variants and their phenotypic outcomes as a significant contribution to ABCA4 disease, particularly the late-onset phenotype, and its clinical variation. They also suggest a significant revision of diagnostic screening and assessment of ABCA4 variation in aetiology of retinal diseases.
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Zernant et al. (2017) studied this question.
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